NEUROMUSCULAR:
Neuromuscular disease is the umbrella term for all diseases of muscles, peripheral nerves and neuromuscular joint.
MUSCLE DISEASE:
Muscle disease implies any and all disorders of muscles, which move our body, are located beneath our skin and can be grasped with our hands. They may develop due to many diversified reasons.
MYOPATHY:
Myopathy is the Latin term for diseases of muscles. See: MUSCLE DISEASE
Some of the muscular diseases occur due to the changes that emerge throughout the life. These are called acquired muscular diseases. However, they are mostly hereditary; they are caused by abnormalities of our genes.
Muscular diseases are manifested by difficulty in sitting down and standing up, walking, running, jumping and raising the arms.
NEUROPATHY:
Neuropathy is the Latin term for diseases of peripheral nerves. “Monopathy” implies a disease in a single nerve, while involvement of more than one nerve is referred to as “polyneuropathy”.
POLYNEUROPATHY:
Polyneuropathies imply a condition, where peripheral nerves are involved in a generalized manner. Peripheral nerves carry the sensorial signals of our skin and internal organs to brain centers or the motor signals of the brain to our muscles. In case of a disseminated disease or in other words, a polyneuropathy, weakness of hands and feet are associated with glove- and socks-like sensorial deficit in hands and feet.
MOTOR NEURON DISEASE:
Motor neuron diseases are caused by deterioration in motor neurons (nervous cells that control the muscle activity) of a nerve. It involves more than one disease. Amyotrophic lateral sclerosis (ALS) is the most well-known type of motor neuron diseases and it is mostly used as synonym of motor neuron disease. Today, exact cause of amyotrophic lateral sclerosis is not known and there is no curative modality for this condition. Patients are prescribed a medicament that is known to slow down progression of the disease.
NEUROMUSCULAR JUNCTION DISEASE:
Neuromuscular junction implies the junction of a nerve and a muscle. Neuromuscular junction is the last station that transmits the “move” and “contract” signals of the brain to the muscle. Improper function of this junction leads to diseases that are associated with severe fatigue, such as Myasthenia Gravis, Lambert-Eaton myasthenic syndrome and congenital myasthenic syndrome.
GUILLIAN BARRé SYNDROME:
Guillain-Barré syndrome is a disease of peripheral nerves that emerges over hours, days or 4 weeks. In other words, it is a type of polyneuropathy. It may progress and involve muscles of the trunk and even face, eyes, swallowing and breathing. In this case, patients may need to stay in the intensive care unit for a while and they may also require mechanical ventilation. Today, a substantial part of patients may engage in activities of daily life without any symptom or with mild symptoms through correct diagnosis, treatment and care.
MYASTHENIA GRAVIS:
Myasthenia gravis is the disease of “receivers” that receive the signal of “movement” from the nerve at the junction of the neuron and the muscle cell. It is an acquired disease that is related with our immune system. Correct diagnosis and treatment help patients continue daily life without any symptom. The disease may, sometimes, be associated with exacerbation periods. Symptoms of exacerbation may be very mild to severe enough to cause shortness of breath. Correct treatment may overcome such periods and our patients may resume routine daily life. It is very crucial to follow up those patients due to the risk of exacerbation.
DUCHENNE:
Duchenne muscular dystrophy (DMD) is a muscle disease that was, first, described by a researcher, Duchenne. It is caused by changes in the dystrophin gene and it is primarily detected in boys. Female members of the family can be carrier. Boys fall down frequently soon after they start walking; they cannot jump and difficulties are faced over time in walking and raising arms.
POMPE DISEASE:
Pompe Disease is a muscle disease that is caused by the deficiency of the enzyme acid alpha-glucosidase, an enzyme that digests glucose in our muscle, and resultant accumulation of glucose in our muscles. Accumulating in our muscle cells, glucose impairs proper function of muscle cells. In case of infancy onset, the disease may involve the myocardium, while respiratory muscles may be involved in case of childhood and adult onset. When the enzyme that digests the glucose is replaced, a relative recovery can be observed or progression of the disease can be slowed down. Today, this genetic disease is a partially treatable condition.
MYOTONIC DYSTROPHY:
Myotonic dystrophy is not only a muscle disease, but it is also a disorder that may involve other systems of the body. It causes both weakness and difficulty in relaxation (myotonia) in muscles. Moreover, it leads to problems in secretory systems (diabetes mellitus, infertility etc.), severe somnolence, cataract, sleep apnea syndrome and rhythm disorders of heart. Cardiologic follow-up is very crucial for those patients.